Canonical Allele Identifier: CA777985778

Gene: AQP4

Linked Data

• dbSNP Id: rs1325975846
• gnomAD v3: 18-26855597-A-G
• gnomAD v4: 18-26855597-A-G
• MyVariant Identifiers: chr18:g.24435561A>G (hg19) ; chr18:g.26855597A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.26855597A>G , CM000680.2:g.26855597A>G	GRCh38
NC_000018.9:g.24435561A>G , CM000680.1:g.24435561A>G	GRCh37
NC_000018.8:g.22689559A>G	NCBI36
NG_029560.1:g.15156T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000383168.9:c.*614T>C MANE Select	ENSP00000372654.4:n.*614T>C
ENST00000672188.1:c.*614T>C	ENSP00000500720.1:n.*614T>C
ENST00000672981.2:c.*527T>C	ENSP00000500598.2:n.*527T>C
ENST00000383168.8:c.*614T>C	ENSP00000372654.4:n.*614T>C
NM_001650.4:c.*614T>C	NP_001641.1:n.*614T>C
NM_004028.3:c.*614T>C	NP_004019.1:n.*614T>C
XM_011525942.1:c.*614T>C	XP_011524244.1:n.*614T>C
NM_001317384.2:c.*527T>C	NP_001304313.1:n.*527T>C
NM_001317387.2:c.*614T>C	NP_001304316.1:n.*614T>C
NM_001364286.1:c.*614T>C	NP_001351215.1:n.*614T>C
NM_001364287.1:c.*527T>C	NP_001351216.1:n.*527T>C
NM_001364289.1:c.*527T>C	NP_001351218.1:n.*527T>C
NM_001650.6:c.*614T>C	NP_001641.1:n.*614T>C
NM_004028.4:c.*614T>C	NP_004019.1:n.*614T>C
XM_011525942.3:c.*614T>C	XP_011524244.1:n.*614T>C
NM_001650.7:c.*614T>C MANE Select	NP_001641.1:n.*614T>C
NM_001317384.3:c.*527T>C	NP_001304313.1:n.*527T>C
NM_001317387.3:c.*614T>C	NP_001304316.1:n.*614T>C
NM_001364289.2:c.*527T>C	NP_001351218.1:n.*527T>C
NM_004028.5:c.*614T>C	NP_004019.1:n.*614T>C